共 50 条
- [45] A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome European Journal of Human Genetics, 2014, 22 : 844 - 846
- [49] A new mechanism for Long QT Syndrome: Polypeptides encoded by hERG1a non-sense mutations regulate hERG1a/1b channels FASEB JOURNAL, 2011, 25